De l'intérêt de partenariats autour du bassin méditerranéen pour les maladies rares = Interest in partnerships around the Mediterranean basin for rare diseasesMEGARBANE, André.La Presse médicale (1983). 2012, Vol 41, issn 0755-4982, S51-S54, HS1Conference Paper

A new autosomal recessive oto-facial syndrome with midline malformationsMEGARBANE, André; CHOUERY, Eliane; RASSI, Simon et al.American journal of medical genetics. 2005, Vol 132A, Num 4, pp 398-401, issn 0148-7299, 4 p.Article

A Multiplex Family With Possible Metaphyseal Spahr-Type Dysplasia and Exclusion of RMRP and COL10A1 as Candidate GenesMEGARBANE, André; CHOUERY, Eliane; GHANEM, Ismat et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 14, pp 1865-1870, issn 1552-4825, 6 p.Article

A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosaMEGARBANE, André; MELICK, Nancy; DAOU, Linda et al.American journal of medical genetics. 2004, Vol 130A, Num 2, pp 176-180, issn 0148-7299, 5 p.Article

Prenatal growth deficiency with narrowness of the cervical spine, subglottic stenosis, hip dislocation, and severe delayed bone ossification: A new skeletal dysplasiaMEGARBANE, André; GHANEM, Ismat; RIZK, Tony et al.American journal of medical genetics. 2002, Vol 112, Num 1, pp 70-74, issn 0148-7299Article

Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-morquio type II syndrome) : Report of a new patient and review of the literatureMEGARBANE, André; MAROTEAUX, Pierre; CAILLAUD, Catherine et al.American journal of medical genetics. 2004, Vol 125A, Num 1, pp 61-66, issn 0148-7299, 6 p.Article

La fièvre méditerranéenne familiale (FMF) : du diagnostic au traitement = Familial Mediterranean Fever (FMF): From diagnosis to treatmentMEDLEJ-HASHIM, Myrna; LOISELET, Jacques; LEFRANC, Gérard et al.Santé (Montrouge). 2004, Vol 14, Num 4, pp 261-266, issn 1157-5999, 6 p.Article

Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?MEGARBANE, André; HADDAD, Joseph; LYONNET, Stanislass et al.American journal of medical genetics. 2003, Vol 116A, Num 2, pp 184-187, issn 0148-7299, 4 p.Article

Post-natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: A new syndrome?MEGARBANE, André; RASSI, Simon; ESTEPHAN, Farid et al.American journal of medical genetics. 2004, Vol 125A, Num 1, pp 57-60, issn 0148-7299, 4 p.Article

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592NICOLAS, Elsa; POITELON, Yannick; CHOUERY, Eliane et al.European journal of human genetics. 2010, Vol 18, Num 10, pp 1107-1113, issn 1018-4813, 7 p.Article

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic featuresHADDAD, Marie-Reine; MIGNON-RAVIX, Cécile; CACCIAGLI, Pierre et al.European journal of medical genetics. 2009, Vol 52, Num 4, pp 211-217, issn 1769-7212, 7 p.Article

New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformationsMEGARBANE, André; DAOU, Linda; MEGARBANE, Hala et al.American journal of medical genetics. 2004, Vol 128A, Num 4, pp 414-417, issn 0148-7299, 4 p.Article

Leukodystrophy associated with oligodontia in a large inbred family: Fortuitous association or new entity?ATROUNI, Salim; DARAZE, Antoine; TAMRAZ, Jean et al.American journal of medical genetics. 2003, Vol 118A, Num 1, pp 76-81, issn 0148-7299, 6 p.Article

Further delineation of the odonto-onycho-dermal dysplasia syndromeMEGARBANE, Hala; HADDAD, May; DELAGUE, Valérie et al.American journal of medical genetics. 2004, Vol 129A, Num 2, pp 193-197, issn 0148-7299, 5 p.Article

Epigenetic Silencing of Lysyl Oxidase-Like-1 through DNA Hypermethylation in an Autosomal Recessive Cutis Laxa CaseDEBRET, Romain; CENIZO, Valérie; AIMOND, Géraldine et al.Journal of investigative dermatology. 2010, Vol 130, Num 11, pp 2594-2601, issn 0022-202X, 8 p.Article

A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutationSTORA, Samantha; CONTE, Martine; CHOUERY, Eliane et al.European journal of medical genetics. 2009, Vol 52, Num 5, pp 341-343, issn 1769-7212, 3 p.Article

Mutations in the Pericentrin (PCNT) Gene Cause Primordial DwarfismRAUCH, Anita; THIEL, Christian T; ZWEIER, Christiane et al.Science (Washington, D.C.). 2008, Vol 319, Num 5864, pp 816-819, issn 0036-8075, 4 p.Article

Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18qSOURATY, Noëlle; SANLAVILLE, Damien; CHEDID, Rima et al.European journal of medical genetics. 2007, Vol 50, Num 5, pp 379-385, issn 1769-7212, 7 p.Article

Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: First report of a Mexican patient and genotype-phenotype correlationMACIAS-GOMEZ, Nelly Margarita; MEGARBANE, André; LEAL-UGARTE, Evelia et al.American journal of medical genetics. 2004, Vol 129A, Num 2, pp 190-192, issn 0148-7299, 3 p.Article

A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremitiesMEGARBANE, André; RASSI, Simon; CHOUERY, Eliane et al.American journal of medical genetics. 2003, Vol 120A, Num 2, pp 276-282, issn 0148-7299, 7 p.Article

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutationsLANA, Erica; MEGARBANE, Andre; TOURRIERE, Helene et al.European journal of human genetics. 2012, Vol 20, Num 10, pp 1044-1050, issn 1018-4813, 7 p.Article

Ambiguous Genitalia, Microcephaly, Seizures, Bone Malformations, and Early Death: A Distinct MCA/MR SyndromeMEGARBANE, André; CHOUERY, Eliane; MIGNON-RAVIX, Cécile et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 5, pp 1147-1151, issn 1552-4825, 5 p.Article

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE geneCLARKE, Nigel F; MAUGENRE, Svetlana; ENDO, Tamao et al.European journal of human genetics. 2011, Vol 19, Num 4, pp 452-457, issn 1018-4813, 6 p.Article

An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 PolymorphismMEGARBANE, Hala; FLORENCE, Jobard; SASS, Jörn Oliver et al.Journal of investigative dermatology. 2009, Vol 129, Num 7, pp 1650-1655, issn 0022-202X, 6 p.Article

Unusual Presentation of a Severe Autosomal Recessive Anhydrotic Ectodermal Dysplasia With a Novel Mutation in the EDAR GeneMEGARBANE, Hala; CLUZEAU, Céline; BODEMER, Christine et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 20, pp 2657-2662, issn 1552-4825, 6 p.Article